Canonical Allele Identifier: CA1865987805
Gene: HSD17B3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96244361_96244362delinsCT , CM000671.2:g.96244361_96244362delinsCT GRCh38
NC_000009.11:g.99006643_99006644delinsCT , CM000671.1:g.99006643_99006644delinsCT GRCh37
NC_000009.10:g.98046464_98046465delinsCT NCBI36
NG_008157.1:g.62791_62792delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.639_640delinsAG ENSP00000364411.2:p.Gln213=
ENST00000375263.8:c.639_640delinsAG MANE Select ENSP00000364412.3:p.Gln213=
ENST00000463517.2:n.2181_2182delinsAG
ENST00000464104.6:n.1577_1578delinsAG
ENST00000467499.6:c.*338_*339delinsAG ENSP00000498077.1:n.*338_*339delinsAG
ENST00000494814.6:n.151_152delinsAG
ENST00000643789.1:c.2931_2932delinsAG
ENST00000648146.1:c.639_640delinsAG ENSP00000497238.1:p.Gln213=
ENST00000648332.1:c.316_317delinsAG ENSP00000497562.1:p.Arg106=
ENST00000648799.1:c.531_532delinsAG ENSP00000498039.1:p.Gln177=
ENST00000650005.1:c.568_569delinsAG ENSP00000498121.1:p.Arg190=
ENST00000375262.3:c.639_640delinsAG ENSP00000364411.2:p.Gln213=
ENST00000375263.7:c.639_640delinsAG ENSP00000364412.3:p.Gln213=
ENST00000464104.5:n.492_493delinsAG
ENST00000494814.5:n.160_161delinsAG
NM_000197.1:c.639_640delinsAG NP_000188.1:p.Gln213=
XM_005251970.3:c.279_280delinsAG XP_005252027.1:p.Gln93=
XM_011518618.1:c.639_640delinsAG XP_011516920.1:p.Gln213=
XM_011518619.1:c.639_640delinsAG XP_011516921.1:p.Gln213=
XM_011518620.1:c.531_532delinsAG XP_011516922.1:p.Gln177=
XM_011518621.1:c.639_640delinsAG XP_011516923.1:p.Gln213=
NM_000197.2:c.639_640delinsAG MANE Select NP_000188.1:p.Gln213=
XM_011518618.2:c.639_640delinsAG XP_011516920.1:p.Gln213=
XM_011518619.2:c.639_640delinsAG XP_011516921.1:p.Gln213=
XM_017014671.1:c.639_640delinsAG XP_016870160.1:p.Gln213=
XM_017014672.1:c.639_640delinsAG XP_016870161.1:p.Gln213=
XM_017014673.2:c.603_604delinsAG XP_016870162.1:p.Gln201=
XM_017014674.1:c.531_532delinsAG XP_016870163.1:p.Gln177=
XM_017014675.1:c.477_478delinsAG XP_016870164.1:p.Gln159=
XM_017014677.1:c.279_280delinsAG XP_016870166.1:p.Gln93=
XM_024447529.1:c.477_478delinsAG XP_024303297.1:p.Gln159=
XR_002956778.1:n.3073_3074delinsAG